Massachusetts’ Findings from Statewide Newborn Screening for Spinal Muscular Atrophy von Hale, Jaime E., Darras, Basil T., Swoboda, Kathryn J., Estrella, Elicia, Chen, Jin Yun Helen, Abbott, Mary-Alice, Hay, Beverly N., Kumar, Binod, Counihan, Anne M., Gerstel-Thompson, Jacalyn, Sahai, Inderneel, Eaton, Roger B., Comeau, Anne Marie

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Ten Years of Newborn Screening for Severe Combined Immunodeficiency (SCID) in Massachusetts von Hale, Jaime E., Platt, Craig D., Bonilla, Francisco A., Hay, Beverly N., Sullivan, John L., Johnston, Alicia M., Pasternack, Mark S., Hesterberg, Paul E., Meissner, H. Cody, Cooper, Ellen R., Barmettler, Sara, Farmer, Jocelyn R., Fisher, Donna, Walter, Jolan E., Yang, Nancy J., Sahai, Inderneel, Eaton, Roger B., DeMaria, Alfred, Notarangelo, Luigi D., Pai, Sung-Yun, Comeau, Anne Marie

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Deletion 22q11: Spectrum of Associated Disorders von Hay, Beverly N., MD

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Gene therapy improves immune function in preadolescents with X-linked severe combined immunodeficiency von Chinen, Javier, Davis, Joie, De Ravin, Suk See, Hay, Beverly N., Hsu, Amy P., Linton, Gilda F., Naumann, Nora, Nomicos, Effie Y.H., Silvin, Christopher, Ulrick, Jean, Whiting-Theobald, Narda L., Malech, Harry L., Puck, Jennifer M.

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Townes-Brocks syndrome: twenty novel SALL1 mutations in sporadic and familial cases and refinement of the SALL1 hot spot region von Botzenhart, Elke M., Bartalini, Gabriella, Blair, Edward, Brady, Angela F., Elmslie, Frances, Chong, Karen L., Christy, Katie, Torres-Martinez, Wilfredo, Danesino, Cesare, Deardorff, Matthew A., Fryns, Jean-Pierre, Marlin, Sandrine, Garcia-Minaur, Sixto, Hellenbroich, Yorck, Hay, Beverly N., Penttinen, Maila, Shashi, Vandana, Terhal, Paulien, Van Maldergem, Lionel, Whiteford, Margo L., Zackai, Elaine, Kohlhase, Jürgen

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Newborn Screening for Severe Combined Immunodeficiency in 11 Screening Programs in the United States von Kwan, Antonia, Abraham, Roshini S, Currier, Robert, Brower, Amy, Andruszewski, Karen, Abbott, Jordan K, Baker, Mei, Ballow, Mark, Bartoshesky, Louis E, Bonilla, Francisco A, Brokopp, Charles, Brooks, Edward, Caggana, Michele, Celestin, Jocelyn, Church, Joseph A, Comeau, Anne Marie, Connelly, James A, Cowan, Morton J, Cunningham-Rundles, Charlotte, Dasu, Trivikram, Dave, Nina, De La Morena, Maria T, Duffner, Ulrich, Fong, Chin-To, Forbes, Lisa, Freedenberg, Debra, Gelfand, Erwin W, Hale, Jaime E, Hanson, I. Celine, Hay, Beverly N, Hu, Diana, Infante, Anthony, Johnson, Daisy, Kapoor, Neena, Kay, Denise M, Kohn, Donald B, Lee, Rachel, Lehman, Heather, Lin, Zhili, Lorey, Fred, Abdel-Mageed, Aly, Manning, Adrienne, McGhee, Sean, Moore, Theodore B, Naides, Stanley J, Notarangelo, Luigi D, Orange, Jordan S, Pai, Sung-Yun, Porteus, Matthew, Rodriguez, Ray, Romberg, Neil, Routes, John, Ruehle, Mary, Rubenstein, Arye, Saavedra-Matiz, Carlos A, Scott, Ginger, Scott, Patricia M, Secord, Elizabeth, Seroogy, Christine, Shearer, William T, Siegel, Subhadra, Silvers, Stacy K, Stiehm, E. Richard, Sugerman, Robert W, Sullivan, John L, Tanksley, Susan, Tierce, Millard L, Verbsky, James, Vogel, Beth, Walker, Rosalyn, Walkovich, Kelly, Walter, Jolan E, Wasserman, Richard L, Watson, Michael S, Weinberg, Geoffrey A, Weiner, Leonard B, Wood, Heather, Yates, Anne B, Puck, Jennifer M

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WRN Mutation Update: Mutation Spectrum, Patient Registries, and Translational Prospects von Yokote, Koutaro, Chanprasert, Sirisak, Lee, Lin, Eirich, Katharina, Takemoto, Minoru, Watanabe, Aki, Koizumi, Naoko, Lessel, Davor, Mori, Takayasu, Hisama, Fuki M., Ladd, Paula D., Angle, Brad, Baris, Hagit, Cefle, Kivanc, Palanduz, Sukru, Ozturk, Sukru, Chateau, Antoinette, Deguchi, Kentaro, Easwar, T.K.M, Federico, Antonio, Fox, Amy, Grebe, Theresa A., Hay, Beverly, Nampoothiri, Sheela, Seiter, Karen, Streeten, Elizabeth, Piña‐Aguilar, Raul E., Poke, Gemma, Poot, Martin, Posmyk, Renata, Martin, George M., Kubisch, Christian, Schindler, Detlev, Oshima, Junko

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Mosaic tetraploidy and transient GFI1 mutation in a patient with severe chronic neutropenia von Hochberg, Jessica C., Miron, Patricia M., Hay, Beverly N., Woda, Bruce A., Wang, Sa A., Richert-Przygonska, Monika, Aprikyan, Andrew A.G., Newburger, Peter E.

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The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families von Fountain, Michael D., Aten, Emmelien, Cho, Megan T., Juusola, Jane, Walkiewicz, Magdalena A., Ray, Joseph W., Xia, Fan, Yang, Yaping, Graham, Brett H., Bacino, Carlos A., Potocki, Lorraine, van Haeringen, Arie, Ruivenkamp, Claudia A.L., Mancias, Pedro, Northrup, Hope, Kukolich, Mary K., Weiss, Marjan M., van Ravenswaaij-Arts, Conny M.A., Mathijssen, Inge B., Levesque, Sebastien, Meeks, Naomi, Rosenfeld, Jill A., Lemke, Danielle, Hamosh, Ada, Lewis, Suzanne K., Race, Simone, Stewart, Laura L., Hay, Beverly, Lewis, Andrea M., Guerreiro, Rita L., Bras, Jose T., Martins, Marcia P., Derksen-Lubsen, Gerarda, Peeters, Els, Stumpel, Connie, Stegmann, Sander, Bok, Levinus A., Santen, Gijs W.E., Schaaf, Christian P.

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Multiple Café au Lait Spots in a Group of Fair-Skinned Children without Signs or Symptoms of Neurofibromatosis Type 1 von St. John, Jessica, Summe, Heather, Csikesz, Courtney, Wiss, Karen, Hay, Beverly, Belazarian, Leah

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Familial immunodeficiency with cutaneous vasculitis, myoclonus, and cognitive impairment von Hay, Beverly N., Martin, Julie E., Karp, Barbara, Davis, Joie, Darnell, Dirk, Solomon, Beth, Turner, Maria, Holland, Steven M., Puck, Jennifer M.

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BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects von Hilton, Emma, Johnston, Jennifer, Whalen, Sandra, Okamoto, Nobuhiko, Hatsukawa, Yoshikazu, Nishio, Juntaro, Kohara, Hiroshi, Hirano, Yoshiko, Mizuno, Seiji, Torii, Chiharu, Kosaki, Kenjiro, Manouvrier, Sylvie, Boute, Odile, Perveen, Rahat, Law, Caroline, Moore, Anthony, Fitzpatrick, David, Lemke, Johannes, Fellmann, Florence, Debray, François-Guillaume, Dastot-Le-Moal, Florence, Gerard, Marion, Martin, Josiane, Bitoun, Pierre, Goossens, Michel, Verloes, Alain, Schinzel, Albert, Bartholdi, Deborah, Bardakjian, Tanya, Hay, Beverly, Jenny, Kim, Johnston, Kathreen, Lyons, Michael, Belmont, John W, Biesecker, Leslie G, Giurgea, Irina, Black, Graeme

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Dystrophic Epidermolysis Bullosa Associated with Amniotic Band Syndrome von Snadecki, Haley, Criscione, Vincent, Jaquith, Alisha, Hay, Beverly, Deng, April, Wiss, Karen

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Noonan syndrome with loose anagen hair associated with trichorrhexis nodosa and trichoptilosis von Kane, Jennifer, Berrebi, Kristen, McLean, Riley, Petkiewicz, Stephanie, Hay, Beverly, Martin, Madelena, Wiss, Karen

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De novo mutations in PURA are associated with hypotonia and developmental delay von Tanaka, Akemi J, Bai, Renkui, Cho, Megan T, Anyane-Yeboa, Kwame, Ahimaz, Priyanka, Wilson, Ashley L, Kendall, Fran, Hay, Beverly, Moss, Timothy, Nardini, Monica, Bauer, Mislen, Retterer, Kyle, Juusola, Jane, Chung, Wendy K

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WRN Mutation Update: Mutation Spectrum, Patient Registries, and Translational Prospects: HUMAN MUTATION von Yokote, Koutaro, Chanprasert, Sirisak, Lee, Lin, Eirich, Katharina, Takemoto, Minoru, Watanabe, Aki, Koizumi, Naoko, Lessel, Davor, Mori, Takayasu, Hisama, Fuki M., Ladd, Paula D., Angle, Brad, Baris, Hagit, Cefle, Kivanc, Palanduz, Sukru, Ozturk, Sukru, Chateau, Antoinette, Deguchi, Kentaro, Easwar, T.K.M, Federico, Antonio, Fox, Amy, Grebe, Theresa A., Hay, Beverly, Nampoothiri, Sheela, Seiter, Karen, Streeten, Elizabeth, Piña-Aguilar, Raul E., Poke, Gemma, Poot, Martin, Posmyk, Renata, Martin, George M., Kubisch, Christian, Schindler, Detlev, Oshima, Junko

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Townes-Brocks syndrome: twenty novelSALL1 mutations in sporadic and familial cases and refinement of theSALL1 hot spot region von Botzenhart, Elke M., Bartalini, Gabriella, Blair, Edward, Brady, Angela F., Elmslie, Frances, Chong, Karen L., Christy, Katie, Torres-Martinez, Wilfredo, Danesino, Cesare, Deardorff, Matthew A., Fryns, Jean-Pierre, Marlin, Sandrine, Garcia-Minaur, Sixto, Hellenbroich, Yorck, Hay, Beverly N., Penttinen, Maila, Shashi, Vandana, Terhal, Paulien, Van Maldergem, Lionel, Whiteford, Margo L., Zackai, Elaine, Kohlhase, Jürgen

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Mosaic Tetraploidy and Transient Mutations in the GFI1 Gene in a Patient with Severe Chronic Neutropenia von Aprikyan, Andrew A.G., Hochberg, Jessica C., Miron, Patricia M., Hay, Beverly N., Woda, Bruce A., Wang, Sa, Newburger, Peter E.

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European Journal of Human Genetics von Hilton, Emma, Johnston, Jennifer, Whalen, Sandra, Okamoto, Nobuhiko, Hatsukawa, Yoshikazu, Nishio, Juntaro, Kohara, Hiroshi, Hirano, Yoshiko, Mizuno, Seiji, Torii, Chiharu, Kosaki, Kenjiro, Manouvrier, Sylvie, Boute, Odile, Perveen, Rahat, Law, Caroline, Moore, Anthony, Fitzpatrick, David, Lemke, Johannes, Fellmann, Florence, Debray, François-Guillaume, Dastot-Le-Moal, Florence, Gerard, Marion, Martin, Josiane, Bitoun, Pierre, Goossens, Michel, Verloes, Alain, Schinzel, Albert, Bartholdi, Deborah, Bardakjian, Tanya, Hay, Beverly, Jenny, Kim, Johnston, Kathreen, Lyons, Michael, Belmont, John W, Biesecker, Leslie G, Giurgea, Irina, Black, Graeme

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Submicroscopic deletions at 16p13.3 in Rubinstein-Taybi syndrome: frequency and clinical manifestations in a North American population von Wallerstein, R, Anderson, C E, Hay, B, Gupta, P, Gibas, L, Ansari, K, Cowchock, F S, Weinblatt, V, Reid, C, Levitas, A, Jackson, L

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